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Xeroderma Pigmentosum

definition

A rare autosomal recessive disease characterized by photosensitivity, photodamage, cutaneous malignancies, severe ophthalmological abnormalities and often early death from malignancy.This light-provoked disease can affect all races. It is manifested as an extreme photosensitivity to ultraviolet light as the result of a deficiency in the enzyme that permits excisional repair of ultraviolet-damaged DNA. The skin of the patients is normal at birth and the changes occur almost exclusively in chronically sun-exposed areas of the body as a result of UV-light injury. The earliest lesions are usually irregular freckling and marked dryness of the sun-exposed areas. The face and hands are affected first, the neck, lips and conjunctivae becoming involved in time. Characteristic findings include mottled skin with erythema, telangiectases, solar elastosis and areas of atrophy as well as the development of numerous premalignancies and malignant tumours. Rigorous protection from sunlight beginning in early infancy has been show to slow the progression of serious cutaneous and ocular abnormalities.